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PubMed1993

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome 5qter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine substitutes for a highly conserved proline at position 7 of the MSX2 homeodomain exclusively in affected members. In the mouse, transcripts of the Msx2 gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome.

Acrocephalosyndactylia↗

PubMed1981

Hearing loss in Pfeiffer's syndrome.

A 14-year-old boy with conduction hearing loss, acrocephaly, minimum syndactyly, broad thumbs and big toes is classified as being affected with a form of acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) [12]. It is the first case of this syndrome presented in the otorhinolaryngological literature. During exploratory tympanotomy, the ossicular chain was found to be fixed. The incus seemed to be fixed in the epitympanum and there was ankylosis of the stapes. After antrotomy during a first stage, stapedectomy and teflon interposition during a second stage the air-bone gap disappeared. Multidirectional polytomography of the inner ear, performed preoperatively, was normal with the exception of a markedly local bilateral dilatation of the internal acoustic meatus. Although this case is a sporadic one, the mode of inheritance of this syndrome is autosomal dominant.

Acrocephalosyndactylia↗

PubMed1994

Use of silastic sheet in Apert's syndactyly.

Patients with Apert's syndrome usually have severe complex syndactyly affecting both hands. Surgical separation of the distal digital bony fusion often exposes bone and cartilage which can cause problems with graft take. A case is presented where the bare divided bone between two digits was kept apart with a silastic sheet. On its removal 4 weeks later, the previously bare bone was covered with a membrane. This was covered with a full thickness skin graft with a complete graft take.

Acrocephalosyndactylia↗

PubMed1995

Monobloc and facial bipartition osteotomies: quantitative assessment of presenting deformity and surgical results based on computed tomography scans.

PURPOSE: The results of monobloc (MB) or facial bipartition (FB) osteotomies on 23 consecutive patients operated on between 1987 and 1991 were evaluated. PATIENTS AND METHODS: A previously described method of clinically relevant linear measurements taken from preoperative and postoperative computed tomographic scans of these patients was used to document their presenting dysmorphology and the results of surgical correction initially and 1 year after operation. These data were compared with control values, and a percentage of normal for each measurement was derived for each patient. RESULTS: In the patients with craniofacial dysostosis undergoing an MB osteotomy, the initial cranial vault length (87% of normal), medial orbital wall length (87%), zygomatic arch length (84%), and extent of globe protrusion (134%) all indicated horizontal (anterior-posterior) deficiency of the upper and middle face. After surgery, these measurements moved closer to age-matched control values. At the 1-year interval a minor degree of relapse was evident. In the patients with craniofacial dysostosis who were believed to need an FB osteotomy, the globe protrusion (142% of normal), medial orbital wall length (85%), and zygomatic arch lengths (83%) all indicated horizontal (anterior-posterior) deficiency in the upper and middle face. In addition, the anterior interorbital distance (123% of normal), mid-interorbital distance (122%), and intertemporal distance (126%) all indicated upper face hypertelorism. As a result of the FB osteotomy, anterior bony projection was achieved, and the hypertelorism was improved, but fell short of age-matched normal values. In the patients with frontonasal dysplasia, cranio-orbital clefting, and isolated orbital hypertelorism who underwent an FB osteotomy, preoperative measurements showed a distinct widening of the whole upper midface with forward projection of the medial relative to the lateral orbital walls. The orbital measurements revealed a substantially widened anterior interorbital distance (175% of normal), increased mid-interorbital distance (123%), and an increased distance between the lateral orbital walls (106%). After the surgical procedure, these measurements were improved and relatively stable but not completely normalized. CONCLUSION: The use of quantitative measurements in the initial evaluation, intraoperative skeletal reshaping, and assessment of early and late reconstructive results provides useful benchmarks.

Acrocephalosyndactylia↗

PubMed1994

Tissue expansion for the treatment of complete syndactyly of the first web.

Tissue expansion is a well-established technique for the management of soft tissue deficiencies. In congenital hand surgery the construction of an adequate first web is paramount. We used tissue expansion in four hands in three patients with complete complex syndactyly of the first web space. Two of these patients had Apert's syndrome and the other an isolated mitten hand anomaly. The expander is preferably placed early in life so that first web construction is completed in the first year. Tissue expander ports are left exposed. There have been no infections, flap or expander loss in our series.

Acrocephalosyndactylia↗

PubMedDate not supplied

Apert syndrome associated with septo-optic dysplasia.

Apert syndrome and septo-optic dysplasia are rare congenital structural disorders which have not been associated previously; we report a female infant with this association. Brain sonography and computed tomography revealed agenesis of the septum pellucidum; optic hypoplasia was demonstrated by funduscopic evaluation. We postulate that an embryopathic factor, which manifests at 5-6 weeks gestation, may result in this new association. Transverse craniectomy was performed in the hope of preserving brain development. Neither hypopituitarism nor adrenal insufficiency was observed; however, clinical manifestations and laboratory data provided evidence of inappropriate antidiuretic hormone syndrome.

Acrocephalosyndactylia↗

PubMedDate not supplied

Cerebral malformations in Carpenter syndrome.

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.

Acrocephalosyndactylia↗

PubMed1986

Maxillary growth following LeFort III advancement surgery in Crouzon, Apert, and Pfeiffer syndromes.

This was a cephalometric study of maxillary growth following LeFort III osteotomy in children with Crouzon, Apert, and Pfeiffer (CAP) syndromes. Nineteen children who had undergone LeFort III advancement osteotomies were followed postoperatively for an average of 5.3 years. Data for horizontal and vertical maxillary growth increments were obtained and compared with data of a control group of unoperated CAP children and with normal data. The findings indicate that horizontal maxillary growth following surgical treatment is negligible (less than 0.1 mm/yr), and differs from unoperated CAP children (0.7 mm/yr) and normal children (1.3 mm/yr). Vertical maxillary growth following surgery is identical to that in unoperated CAP and normal children, amounting to 1.3 mm/yr. The LeFort III osteotomy during childhood is a justifiable procedure for physiologic and psychologic reasons. Horizontal maxillary growth, for all practical purposes, is eliminated by this procedure and a subsequent maxillary advancement is invariably required at the completion of growth.

Acrocephalosyndactylia↗

PubMed1996

[Mental prognosis of Apert syndrome].

BACKGROUND: Mental retardation, considered as common in Apert syndrome could be in part due to associated brain abnormalities. POPULATION AND METHODS: Sixty patients (32 males, 28 females) were included in the study. Patient age at the last examination was over 3 years (mean 10 years, range 3-28 years) in 38 patients. IQ was assessed from psychometric tests adapted for age. Brain anatomy was studied by MRI. Age at operation and quality of familial environment were also evaluated. RESULTS: The IQ was over 70 in 12 patients (32%), over 90 in five (13%) and the mean IQ was 62 (10-114). Thirty percent of patients had abnormalities of the corpus callosum, 43% of the cerebral ventricles and 55% of the septum pellucidum. There was no anomaly in 28% of the patients. One or more operations were performed in 53 patients, before one year of age in 37. Ten children were institutionalized or in deleterious family situation. The main factor influencing the mental prognosis was the age at operation: the final IQ was over 70 in 50% of the children operated on before one year of age versus 8% in those operated on later (P = 0.01). Only the anomalies of the septum pellucidum seemed to play a role: 50% of the patients with normal septum had an IQ > 70 compared to 18% in those with septum anomalies (P < 0.04). The quality of the familial environment also influenced the mental development: 12.5% of the patients who were institutionalized or in difficult familial situation had an IQ > 70 compared to 39% of those who live in a normal family. CONCLUSIONS: Careful investigation including MRI is necessary for detecting associated brain abnormalities. The patients must be operated on early, if possible before the age of nine months. Attention has also to be paid to quality of the sociofamilial environment.

Acrocephalosyndactylia↗

PubMed2006

Ophthalmic findings in apert syndrome prior to craniofacial surgery.

PURPOSE: To determine ophthalmic findings in patients with Apert syndrome before craniofacial surgery. DESIGN: A cross-sectional retrospective study. METHODS: Review of 63 cases (27 males, 36 females) with Apert syndrome without craniofacial surgery from the Australian Craniofacial Unit. Demographic data, age of presentation, and ophthalmic findings at the first presentation were recorded. RESULTS: At a mean age of four years and median age of one year, at least 14% of patients had amblyopia, 60% of patients had strabismus, 19% of patients had anisometropia, and 34% of eyes had ametropia. Exposure keratopathy and corneal scarring occurred in at least 13% of patients and optic atrophy in at least 8% of patients. CONCLUSIONS: This study demonstrated that patients with Apert syndrome were at risk of amblyopia because of high prevalence of refractive errors, strabismus, and anisometropia. Exposure keratopathy and corneal scarring occurred commonly.

Acrocephalosyndactylia↗

PubMed2005

Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome.

Apert syndrome is a rare disorder characterized by coronal craniosynostosis, syndactyly, brachycephaly, midfacial hypoplasia, and central nervous system anomalies, among other malformations. We present a case of Apert syndrome examined at 22 + 0 weeks' gestation. Three-dimensional maximum mode was decisive for the correct prenatal diagnosis by demonstrating the cranial deformities.

Acrocephalosyndactylia↗

PubMed2005

Simultaneous multiple vector distraction for craniosynostosis syndromes.

Syndromic craniosynostoses are commonly treated conditions in craniofacial units. The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include craniosynostosis, mid-face hypoplasia and ocular proptosis. The craniofacial management of a child with these syndromes through to adulthood may require a number of surgical interventions to allow brain development, to provide an adequate airway, to prevent corneal ulceration and to provide a functional dental occlusion. The management of these different priorities into timed interventions in our unit is determined by established protocols. We report two cases that underwent simultaneous mid-face (Le Fort III) and fronto-orbital osteotomies followed by distraction but using different vectors to advance the upper and mid-face regions (to achieve all treatment goals) in a 12-year-old boy and a 16-year-old girl.

Acrocephalosyndactylia↗

PubMed2005

In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.

Seathre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome, associated with loss-of-function mutations in the basic helix-loop-helix transcription factor, TWIST1. The biologic activity of TWIST1 has been implicated in the inhibition of differentiation of multiple cell lineages. Therefore, premature fusion of cranial sutures (craniosynostosis) in SCS may be mediated by altered differentiation of calvarial osteoblasts. In this study, we evaluated osteoblasts derived from calvarial bone of three patients with SCS and three unaffected individuals as controls to investigate the principle stages of osteoblast differentiation: (1) proliferation, (2) matrix maturation, and (3) mineralization. Using a BrdU-Hoechst flow cytometry assay, we found that the percent of proliferating cells was significantly reduced in cells derived from patients with SCS compared with those derived from controls (P < or = 0.05). In the matrix maturation stage, alkaline phosphatase (ALP) enzyme activity and the expression of extracellular matrix genes, collagen I alpha 2 (COL1A2), osteopontin (OPN), osteocalcin (OC), and the runt-related transcription factor RUNX2 were examined by enzymatic assay and real-time quantitative RT-PCR, respectively. We identified no significant differences in the expression of matrix related transcripts. However, we found significant reductions in ALP activity on days 3 and 7 and in RUNX2 expression on days 14 and 21 (P < or = 0.05). Quantitative alizarin red S mineralization assays showed a trend toward increased mineralization in osteoblasts derived from patients with SCS at days 21 and 28, although not statistically significant. Our results demonstrated that loss-of-function mutations of TWIST1 led to reduced proliferation regardless of the functional domain affected. We did not find any conclusive differences in matrix maturation or mineralization in these primary osteoblasts. It is plausible that mutations in different functional domains of TWIST1 have divergent effects on these later stages of differentiation.

Acrocephalosyndactylia↗

PubMed2006

Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.

Saethre-Chotzen syndrome (SCS) is a craniosynostosis syndrome characterized by facial and limb abnormalities caused by mutations in the TWIST1 gene on 7p21, resulting in variable loss of function. The transcription factor TWIST1 has also been shown to promote tumor growth and has been linked to the formation of metastases in breast cancers. One suggestive case of inherited SCS and malignancy in childhood has been reported previously. Here, we present immunological and genetic investigations including the determination of a new stop codon mutation in the TWIST1 gene in SCS associated with malignancy in childhood.

Acrocephalosyndactylia↗

PubMed2004

From midface distraction to the "true monoblock".

In treating craniosynostosis, during the past 2 decades it has become accepted practice to perform fronto-orbital advancement and delay midfacial surgery. Corneal exposure,associated airway difficulties, and psychosocial problems remained untreated in these patients. Distraction osteogenesis assisted endoscopically offers an alternative treatment for patients with craniosynostosis, with the possibility of early midfacial surgery and simultaneous correction of the orbital-frontal deformity. The major benefit of gradual distraction is that it allows the surgeon to overcome the resistance of the overlying soft tissue envelope and offers the option of displacing the skeletal framework over greater distances, thus avoiding bone grafting. The technique also reduces morbidity and produces an improvement in form and function.

Acrocephalosyndactylia↗

PubMed2005

The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot study.

Transverse maxillary hypoplasia, in adolescents and adults, is frequently seen as an acquired deformity and in congenital deformities patients and can be corrected by means of surgically assisted rapid maxillary expansion. Traditionally, the distractors for expansion are tooth-borne devices, i.e. hyrax appliances, which may have some serious disadvantages such as tooth tipping, cortical fenestration, skeletal relapse and loss of anchorage. In contrast, with bone-borne distractors most of the maxillary expansion is orthopedic and at a more mechanically desired level with less dental side effects. A new bone-borne palatal distractor has been developed. By activation the nails of the abutments plates automatically stabilizes the device and no screw fixation is necessary anymore. This new distractor is presented and the data of five acquired deformity and eight congenital deformity patients that were treated with this distractor are reported.

Acrocephalosyndactylia↗

PubMed2004

The carpenter syndrome phenotype.

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

Acrocephalosyndactylia↗

PubMed2004

Apert syndrome and hearing loss with ear anomalies: a case report and literature review.

Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually bilateral and conductive, often attributable to congenital stapes fixation. In determining treatment, the risk of gusher with stapedectomy becomes an important consideration. We present an adult with Apert syndrome and hearing loss, with particular emphasis on a progressive conductive component in one ear. Surgical exploration failed to reveal any definite middle ear abnormality and no stapedectomy was performed. A theory on the pathogenesis of the conductive loss in our patient follows a brief review of the literature on gusher in patients with ear malformations.

Acrocephalosyndactylia↗